Abstracts tagged "Gene Expression"

Abstract Number: 1330 • 2017 ACR/ARHP Annual Meeting
Rhesus Theta Defensin 1 (RTD-1) Suppresses Disease-Associated Genes and Induces Anti-Inflammatory Expression Signature in Synovial Tissues of Rat Model of Rheumatoid Arthritis
Prasad Tongaonkar¹, Vasu Punj², Akshay Subramanian³, Dat Tran³, Katie Trinh⁴, Justin Schaal¹, Percio S. Gulko⁵, Andre Oullette³ and Michael Selsted³, ¹Pathology and Laboratory Medicine, Keck School of Medicine University of Southern California, Los Angeles, CA, ²Medicine, Keck School of Medicine University of Southern California, Los Angeles, CA, ³Keck School of Medicine University of Southern California, Los Angeles, CA, ⁴Pathology, Keck School of Medicine University of Southern California, Los Angeles, CA, ⁵Medicine/Rheumatology, Icahn School of Medicine at Mount Sinai, New York, NY
Background/Purpose: Theta (θ) defensins are the only known macrocyclic peptides found in the Animal kingdom and are exclusively expressed in Old World monkeys. θ-defensins were…
Abstract Number: 2347 • 2017 ACR/ARHP Annual Meeting
High Interferon (IFN) Signatures and Overlapping Clinical Features Characterize Subgroups of Patients with Presumed IFN-Mediated Autoinflammatory Diseases
Adriana Almeida de Jesus¹, Yanfeng Hou², Louise Malle¹, Scott Canna³, Stephen R. Brooks⁴, Hanna Kim⁵, Gina A. Montealegre Sanchez¹, Rachel VanTries¹, Angélique Biancotto⁶, Samantha Dill⁵, Dawn C. Chapelle⁵, Bernadette Marrero¹, Yan Huang¹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Studies (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Department of Rheumatology, Shandong Provincial Qianfoshan Hospital, Shandong University, Shandong, China, ³Richard King Mellon Foundation Institute for Pediatric Research, Children's Hospital of Pittsburgh, Pittsburrgh, PA, ⁴Biodata Mining and Discovery Section, Office of Science and Technology, NIAMS/NIH, Bethesda, MD, ⁵Pediatric Translational Research Branch, NIAMS/NIH, Bethesda, MD, ⁶Center for Human Immunology, Autoimmunity and Inflammation (CHI), NHLBI, NIH, Bethesda, MD
Background/Purpose: Many pediatric patients (pts.) with early-onset autoinflammatory disease (AID) phenotypes are mutation-negative for genetically known AIDs. Recent data suggest a role for Type-I interferon…
Abstract Number: 175 • 2017 ACR/ARHP Annual Meeting
Precisely Controlled Differential Gene Expression System to Investigate the Effect of eQTL
Xiaoming Lu, PhD^1,2, Xiaoting Chen¹, Carmy Forney¹, Connor Schroeder¹, John B. Harley¹, Matthew Weirauch³ and Leah C. Kottyan⁴, ¹Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Immunobiology Graduate Program, University of Cincinnati College of Medicine, Cincinnati, OH, ³Center for Autoimmune Genomics and Etiology (CAGE) and Divisions of Biomedical Informatics and Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Center for Autoimmune Genomics and Etiology (CAGE), Division of Allergy and Immunology, Cincinnati Children's Hospital, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Genome-wide association studies and large-scale sequencing studies identify many non-coding genetic variants that increase disease risk. At least 60% of these loci have been…
Abstract Number: 1406 • 2017 ACR/ARHP Annual Meeting
Methods for Generating Multiple High-Dimensional Analyses of Cryopreserved Synovial Tissue Developed By the Accelerating Medicines Partnership RA/SLE Network
Deepak Rao¹, Laura T. Donlin², Kevin Wei³, Nida Meednu⁴, Jason Turner⁵, Mandy J. McGeachy⁶, Fumitaka Mizoguchi⁷, Joshua Keegan⁸, James Lederer⁹, Maria Gutierrez-Arcelus¹⁰, Kamil Slowikowski¹¹, Kaylin Muskat¹², Joshua Hillman¹², Cristina Rozo¹³, Edd Ricker¹⁴, Thomas Eisenhaure¹⁵, David Lieb¹⁵, Shuqiang Li¹⁵, Edward Browne¹⁵, Chad Nusbaum¹⁵, William H. Robinson¹⁶, Stephen Kelly¹⁷, Alessandra B. Pernis¹⁸, Lionel Ivashkiv¹⁹, Susan M. Goodman²⁰, Ellen M. Gravallese²¹, Michael Holers²², Nir Hacohen²³, Costantino Pitzalis¹⁷, Peter Gregersen²⁴, Vivian P. Bykerk²⁵, Larry W. Moreland²⁶, Gary Firestein²⁷, Soumya Raychaudhuri²⁸, Andrew Filer²⁹, David L. Boyle³⁰, Michael Brenner¹⁰ and Jennifer H. Anolik⁴, ¹Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Arthritis and Tissue Degeneration Program and the David Z. Rosensweig Genomics Research Center, Hospital for Special Surgery, New York, NY, ³Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁴Medicine- Allergy, Immunology and Rheumatology, University of Rochester Medical Center, Rochester, NY, ⁵Institute of Inflammation and Ageing, University of Birmingham, Birmingham, United Kingdom, ⁶Medicine, University of Pittsburgh, Pittsburgh, PA, ⁷Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan, ⁸Brigham and Women's Hospital, Boston, MA, ⁹Department of Surgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ¹⁰Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ¹¹Division of Medicine and Rheumatology, Brigham and Women's Hospital, Harvard Medical Schoo, Boston, MA, ¹²University of California, San Diego, San Diego, CA, ¹³Hospital for Special Surgery, New York, NY, ¹⁴Weill Cornell Graduate School of Medical Sciences, New York, NY, ¹⁵Broad Institute, Cambridge, MA, ¹⁶Stanford University School of Medicine, Stanford, CA, ¹⁷Centre for Experimental Medicine and Rheumatology, William Harvey Research Institute, Barts and The London, School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom, ¹⁸David Z. Rosensweig Genomics Research Center, Hospital for Special Surgery, New York, NY, ¹⁹Medicine, Hospital for Special Surgery, New York, NY, ²⁰Medicine, Hospital for Special Surgery/Weill Cornell Medicine, New York, NY, ²¹Lazare Research Bldg, University of Massachusetts Medical School, Worcester, MA, ²²Medicine, Division of Rheumatology, University of Colorado Denver, Aurora, CO, ²³Harvard Medical School, Boston, MA, ²⁴The Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY, ²⁵2-005, Mt Sinai Hospital, Toronto, ON, Canada, ²⁶Rheumatology & Clinical Immunology, University of Pittsburgh, Pittsburgh, PA, ²⁷EGG, St Cloud, France, ²⁸Division of Medicine and Rheumatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²⁹Institute of Inflammation and Ageing (IIA), University of Birmingham, Birmingham, United Kingdom, ³⁰University of California San Diego, La Jolla, CA
Background/Purpose: Detailed analyses of cells from rheumatoid arthritis (RA) synovium may identify cell phenotypes and functions that drive tissue pathology and joint damage. The AMP…
Abstract Number: 2432 • 2017 ACR/ARHP Annual Meeting
Longitudinal Changes in Gene Expression Associated with Disease Activity during Pregnancy and Post-Partum Among Women with Rheumatoid Arthritis
Dana E. Goin^1,2, Mette Smed³, Nicholas Jewell², Lior Pachter^2,4, J. Lee Nelson^5,6, Hanne Kjaergaard³, Jørn Olsen⁷, Merete Lund Hetland^8,9, Bent Ottesen³, Vibeke Zoffmann³ and Damini Jawaheer^1,7,10, ¹UCSF Benioff Children's Hospital Oakland/CHORI, Oakland, CA, ²University of California, Berkeley, Berkeley, CA, ³Juliane Marie Center, Copenhagen, Denmark, ⁴California Institute of Technology, Pasadena, CA, ⁵Fred Hutchinson Cancer Research Center, Seattle, WA, ⁶University of Washington, Seattle, WA, ⁷Aarhus University, Aarhus, Denmark, ⁸The DANBIO registry and the Danish Departments of Rheumatology, Glostrup, Denmark, ⁹University of Copenhagen, Copenhagen, Denmark, ¹⁰University of California, San Francisco, San Francisco, CA
Background/Purpose: Many women with rheumatoid arthritis (RA) experience an improvement in disease activity during pregnancy, and a predictable flare in the months after they give…
Abstract Number: 177 • 2017 ACR/ARHP Annual Meeting
Intronic Variants of the B-Cell Proliferator RASGRP3 Affect Its Expression, and Might Contribute to Lupus Risk
Bhupinder Singh¹, Philip Borden², Julio Molineros³, Celi Sun³, Loren Looger² and Swapan Nath¹, ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, OKlahoma City, OK, ²Howard Hughes Medical Institute, Ashburn, VA, ³Oklahoma Medical Research Foundation, OKlahoma City, OK
Background/Purpose: Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease with complex genetic underpinnings. Variants from RASGRP3 (RAS Guanyl Releasing Protein 3) is one of…
Abstract Number: 1411 • 2017 ACR/ARHP Annual Meeting
Protein Tyrosine Phosphatase Non-Receptor 22 / C-Src Tyrosine Kinase Complex Down-Regulated in Patients with Rheumatoid Arthritis
Sara Remuzgo-Martínez¹, Fernanda Genre¹, Raquel López-Mejías¹, Santos Castañeda², Alfonso Corrales¹, Pablo Moreno Fresneda^2,3, Begoña Ubilla¹, Verónica Mijares¹, Virginia Portilla¹, Jesús González-Vela¹, Trinitario Pina¹, J. Gonzalo Ocejo-Vinyals⁴, Juan Irure-Ventura⁴, Ricardo Blanco¹, Javier Martin⁵, Javier Llorca⁶ and Miguel Angel González-Gay⁷, ¹Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain, ²Rheumatology Division, Hospital Universitario La Princesa, IIS-IP, Madrid, Spain, ³Rheumatology, Rheumatology Division, Hospital Universitario La Princesa, IIS-IP, Madrid, Spain, ⁴Immunology Division, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁵Instituto de Parasitología y Biomedicina ‘López-Neyra’, CSIC, PTS Granada, Granada, Spain, ⁶Department of Epidemiology and Computational Biology, School of Medicine, University of Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), IDIVAL, Santander, Spain, ⁷Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL and School of Medicine, University of Cantabria, Santander, Spain
Background/Purpose: Protein tyrosine phosphatase non-receptor 22 (PTPN22) binds to C-Src tyrosine kinase (CSK) forming a key regulator complex in autoimmunity1. In this regard, PTPN22 is…
Abstract Number: 2433 • 2017 ACR/ARHP Annual Meeting
Transcriptome Analysis in Women with Rheumatoid Arthritis Who Improve or Worsen during Pregnancy
Dana E. Goin^1,2, Mette Smed³, Lior Pachter^2,4, Elizabeth Purdom², J. Lee Nelson^5,6, Hanne Kjaergaard³, Jørn Olsen⁷, Merete Lund Hetland^8,9, Bent Ottesen³, Vibeke Zoffmann³ and Damini Jawaheer^1,7,10, ¹UCSF Benioff Children's Hospital Oakland/CHORI, Oakland, CA, ²University of California, Berkeley, Berkeley, CA, ³Juliane Marie Center, Copenhagen, Denmark, ⁴California Institute of Technology, Pasadena, CA, ⁵Immunogenetics, Fred Hutchinson Cancer Rsch, Seattle, WA, ⁶University of Washington, Seattle, WA, ⁷Aarhus University, Aarhus, Denmark, ⁸The DANBIO registry and the Danish Departments of Rheumatology, Glostrup, Denmark, ⁹University of Copenhagen, Copenhagen, Denmark, ¹⁰University of California, San Francisco, San Francisco, CA
Background/Purpose: Gene expression changes induced by pregnancy in women with rheumatoid arthritis (RA) and healthy women have not been examined. The few studies previously conducted…
Abstract Number: 183 • 2017 ACR/ARHP Annual Meeting
Allele-Dependent Binding of a Viral Protein to Autoimmune Disease-Associated Genetic Variants
Matthew Weirauch¹, Daniel Miller², Leah C. Kottyan³, Ignacio Ibarra⁴, Arthur Lynch², Sayeed Syed⁵, Xiaoting Chen², Erin Zoller², Connor Schroeder², Josh Lee², Albert Magnusen⁶, Ally Yang⁷, Timothy R. Hughes⁷, Joo-Seop Park⁸, Charles Vinson⁵ and John B. Harley^2,9, ¹Center for Autoimmune Genomics and Etiology (CAGE) and Divisions of Biomedical Informatics and Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Center for Autoimmune Genomics and Etiology (CAGE), Division of Allergy and Immunology, Cincinnati Children's Hospital, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Structural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany, ⁵NCI, Bethesda, MD, ⁶Center of Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁷University of Toronto, Toronto, ON, Canada, ⁸Divisions of Urology and Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁹US Department of Veterans Affairs Medical Center, Cincinnati, OH
Background/Purpose: Risk factors are known for many diseases, but the etiologies of most autoimmune diseases remain unknown and are idiopathic. Pathogenesis of disease likely involves…
Abstract Number: 1413 • 2017 ACR/ARHP Annual Meeting
Cytokine-Induced Aire Activity in Rheumatoid Arthritis Fibroblast-like Synoviocytes Regulates Expression of Interferon-γ Response Genes
Beatrice Bergström¹, Christina Lundqvist¹, Hans Carlsten¹, Olov Ekwall² and Anna-Karin Hultgård Ekwall¹, ¹Rheumatology and Inflammation Research, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden, ²Dept. of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg, Göteborg, Sweden
Background/Purpose: AIRE is a transcriptional regulator of tissue specific antigens in medullary thymic epithelial cells (mTEC). AIRE orchestrates the negative selection of self-reactive T cells…
Abstract Number: 2657 • 2017 ACR/ARHP Annual Meeting
Single Cell Expression Quantitative Trait Loci (eQTL) Analysis of Established Systemic Lupus Erythematosus (SLE)-Risk Loci in Lupus Patient Monocytes
Yogita Ghodke-Puranik¹, Zhongbo Jin², Wei Fan³, Mark A. Jensen¹, Jessica M. Dorschner², Danielle Vsetecka², Shreyasee Amin⁴, Ashima Makol⁵, Floranne C. Ernste⁶, Thomas Osborn⁴, Kevin Moder⁴, Vaidehi Chowdhary⁷ and Timothy Niewold⁸, ¹Colton Center for Autoimmunity, New York University, New York, NY, ²Division of Rheumatology and Department of Immunology, Mayo Clinic, Rochester, MN, ³Department of Rheumatology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, China, Shanghai, China, ⁴Rheumatology, Mayo Clinic, Rochester, MN, ⁵Rheumatology, Mayo Clinic College of Medicine and Science, Rochester, MN, ⁶Division of Rheumatology, Mayo Clinic Rochester, Rochester, MN, ⁷Internal Medicine, Division of Rheumatology, Mayo Clinic College of Medicine and Science, Rochester, MN, ⁸New York University, New York, NY
Background/Purpose: Most confirmed SLE-risk loci are found near or in genes with immune function, yet how these loci influence diverse immune cell subsets remains unknown.…
Abstract Number: 297 • 2017 ACR/ARHP Annual Meeting
Multiplexed Characterization of Circulating and Joint-Derived Human Neutrophils in Inflammatory Arthritis
Ricardo Grieshaber Bouyer¹, Olha Halyabar², Anais Levescot¹, Kacie Hoyt², Lauren Henderson² and Peter Nigrovic^1,2, ¹Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA
Background/Purpose: Neutrophils are innate immune cells that play a central role in the initiation of inflammatory arthritis as well as mediating tissue damage. We sought…
Abstract Number: 1416 • 2017 ACR/ARHP Annual Meeting
Higher Expression of Type 1 Interferon in Synovitis of Patient with Undifferentiated Arthritis before They Met Rheumatoid Arthritis Criteria Compared to Established Rheumatoid Arthritis. a Retrospective Study with 14 Years of Follow-up
Andrea Cuervo¹, Raquel Celis², Julio Ramírez³, Alicia Usategui⁴, Regina Faré⁵, M. Victoria Hernández⁶, Virginia Ruiz-Esquide³, Jose Inciarte-Mundo⁷, Raimon Sanmarti⁸, Jose L. Pablos⁹ and Juan D. Cañete⁷, ¹Arthritis Unit. Rheumatology Dpt, Arthritis Unit, Rheumatology Dpt, Hospital Clinic of Barcelona and IDIBAPS, Barcelona, Spain, ²Arthritis Unit, Rheumatology Department, Arthritis Unit, Rheumatology Dpt, Hospital Clinic of Barcelona and IDIBAPS, Barcelona, Spain, ³Rheumatology Service, Hospital Clínic de Barcelona, Barcelona, Spain, ⁴Grupo de Enfermedades Inflamatorias y Autoinmunes, Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain, ⁵Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain, ⁶Hospital Clinic. Barcelona. Spain, Barcelona, Spain, ⁷Rheumatology Department, Arthritis Unit, Rheumatology Dpt, Hospital Clinic of Barcelona, Barcelona, Spain, ⁸Arthritis Unit, Rheumatology Dpt, Hospital Clinic of Barcelona, Barcelona, Spain, ⁹Servicio de Reumatología, Hospital 12 de Octubre, Madrid, Spain
Background/Purpose: Undifferentiated Arthritis (UA) is defined as an inflammatory oligo/poly arthritis that does not fulfil criteria for a definitive diagnosis.Delay in diagnosis and treatment leads…
Abstract Number: 2659 • 2017 ACR/ARHP Annual Meeting
Development of a Protocol for Single Cell Transcriptomics of Cells from Cryopreserved Lupus Nephritis Kidney Tissue and Urine for the Accelerating Medicines Partnership RA/SLE Network
Deepak Rao¹, Celine C. Berthier², Arnon Arazi³, Anne Davidson⁴, Yanyan Liu⁵, Edward Browne³, Thomas Eisenhaure³, Adam Chicoine⁶, David Lieb³, Dawn Smilek⁷, Patti Tosta⁷, James Lederer⁸, Michael Brenner⁵, David Hildeman⁹, E. Steve Woodle¹⁰, David Wofsy¹¹, Jennifer H. Anolik¹², Matthias Kretzler¹³, Nir Hacohen¹⁴ and Betty Diamond¹⁵, ¹Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Nephrology, Division of Nephrology, University of Michigan Medical Center, Ann Arbor, MI, ³Broad Institute, Cambridge, MA, ⁴Autoimmunity and Musculoskeletal Diseases, Feinstein Inst for Med Rsch, Manhasset, NY, ⁵Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁶Brigham and Women's Hospital, Boston, MA, ⁷Immune Tolerance Network, San Francisco, CA, ⁸Department of Surgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁹University of Cincinnati, Cincinnati, OH, ¹⁰University of Cincinnati College of Medicine, Cincinnati, OH, ¹¹Rheumatology, UCSF, San Francisco, CA, ¹²Medicine- Allergy, Immunology and Rheumatology, University of Rochester Medical Center, Rochester, NY, ¹³Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, MI, ¹⁴Harvard Medical School, Boston, MA, ¹⁵Autoimmune and Musculoskeletal Diseases, The Feinstein Institute for Medical Research, Manhasset, NY
Background/Purpose: There is a critical need to define the cells that mediate tissue damage in lupus nephritis. Here we aimed to establish a protocol to…
Abstract Number: 405 • 2017 ACR/ARHP Annual Meeting
Dynamics of Transcriptional Signatures from Purified Synovial Macrophage Subsets during Acute and Chronic Murine Models of Inflammatory Arthritis
Philip J. Homan, Salina Dominguez, Harris Perlman, Deborah R. WInter and Carla Cuda, Department of Medicine Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL
Background/Purpose: Rheumatoid arthritis (RA) manifests in persistent synovial inflammation, cellular infiltration and pro-inflammatory cytokine production, resulting in progressive joint destruction. Macrophages have been implicated in…

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